Publications

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2010
Duval R, Hammamji K, Aroichane M, Michaud JL, Ospina LH. "Acquired myelinated nerve fibers in association with optic disk drusen." J AAPOS. 2010;14(6):544-7. Abstract
Morcaldi G, Boccardo F, Campisi C, Bellini T, Massocco D, Bonioli E. "Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association." Lymphology. 2010;43(4):188-91. Abstract
Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro M-J, López-Guerrero AL, Pérez-Espejo MA. "Craniosynostosis in Kabuki syndrome." J Neurosurg Pediatr. 2010;6(2):198-201. Abstract
2009
Torii Y, Yagasaki H, Tanaka H, et al. "Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome." Int. J. Hematol.. 2009;90(2):174-6. Abstract
Al Mosawi AJ, Fewin L. "The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots." G Ital Dermatol Venereol. 2009;144(5):613-5. Abstract
Pottinger CC, Stiff RE, Holroyd JM, Davies SJ. "Further evidence of dominant inheritance of Kabuki syndrome." Clin. Dysmorphol.. 2009;18(4):215-7.
Teixeira CS, Silva CRL, Honjo RS, Bertola DR, Albano LMJ, Kim CA. "Dental evaluation of Kabuki syndrome patients." Cleft Palate Craniofac. J.. 2009;46(6):668-73. Abstract
Rosti RO, Kayserili H. "Kabuki make-up syndrome with unilateral renal agenesis." Turk. J. Pediatr.. 2009;51(3):298-300. Abstract
Bayar Muluk N, Yalçinkaya F, Budak B, Gündüz S, Ayas K. "Evaluation for language and speech development in Kabuki make-up syndrome: a case report." Int. J. Pediatr. Otorhinolaryngol.. 2009;73(12):1837-40. Abstract
Kapoor RR, James C, Hussain K. "Hyperinsulinism in developmental syndromes." Endocr Dev. 2009;14:95-113. Abstract
1998
Petersen RB, Lindholm P, Bonde CT. "[Kabuki syndrome]." Ugeskr. Laeg.. 1998;172(18):1384-5. Abstract